MCID: SCC001
MIFTS: 55

Succinic Semialdehyde Dehydrogenase Deficiency

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Succinic Semialdehyde Dehydrogenase Deficiency

MalaCards integrated aliases for Succinic Semialdehyde Dehydrogenase Deficiency:

Name: Succinic Semialdehyde Dehydrogenase Deficiency 54 12 23 50 24 25 56 71 13 14 69
4-Hydroxybutyric Aciduria 12 23 50 24 25 56 71
Gamma-Hydroxybutyric Aciduria 12 23 24 25 56 71
Ssadh Deficiency 23 50 24 25 56 71
Gaba Metabolic Defect 50 71
Succinate Semialdehyde Dehydrogenase Deficiency 71
Succinate-Semialdehyde Dehydrogenase Deficiency 29
Succinic Semialdehyde Dehydrogenase 13
Gamma-Hydroxybutyric Acidemia 25
Gamma-Hydroxybutyricaciduria 50
4-Hydroxybutyricaciduria 25
Ssadhd 71
Ssadh 12

Characteristics:

Orphanet epidemiological data:

56
succinic semialdehyde dehydrogenase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy,Neonatal; Age of death: adult;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
highly variable phenotype


HPO:

32
succinic semialdehyde dehydrogenase deficiency:
Onset and clinical course phenotypic variability infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Succinic Semialdehyde Dehydrogenase Deficiency

Genetics Home Reference : 25 Succinic semialdehyde dehydrogenase deficiency is a disorder that can cause a variety of neurological problems. People with this condition typically have developmental delay, especially involving speech development; intellectual disability; and decreased muscle tone (hypotonia) soon after birth. About half of those affected experience seizures, difficulty coordinating movements (ataxia), decreased reflexes (hyporeflexia), and behavioral problems. The most common behavioral problems associated with this condition are sleep disturbances, hyperactivity, difficulty maintaining attention, and anxiety. Less frequently, affected individuals may have increased aggression, hallucinations, obsessive-compulsive disorder (OCD), and self-injurious behavior, including biting and head banging. People with this condition can also have problems controlling eye movements. Less common features of succinic semialdehyde dehydrogenase deficiency include uncontrollable movements of the limbs (choreoathetosis), involuntary tensing of the muscles (dystonia), muscle twitches (myoclonus), and a progressive worsening of ataxia.

MalaCards based summary : Succinic Semialdehyde Dehydrogenase Deficiency, also known as 4-hydroxybutyric aciduria, is related to hypotonia and epilepsy, and has symptoms including ataxia, global developmental delay and intellectual disability. An important gene associated with Succinic Semialdehyde Dehydrogenase Deficiency is ALDH5A1 (Aldehyde Dehydrogenase 5 Family Member A1), and among its related pathways/superpathways are Metabolism and Transmission across Chemical Synapses. The drugs (3-aminopropyl)(n-butyl)phosphinic acid and GABA Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and liver.

NIH Rare Diseases : 50 succinic semialdehyde dehydrogenase (ssadh) deficiency is a disorder that can cause a variety of neurological and neuromuscular problems. the signs and symptoms can be extremely variable among affected individuals and may include mild to severe intellectual disability; developmental delay (especially involving speech); hypotonia; difficulty coordinating movements (ataxia); and/or seizures. some affected individuals may also have decreased reflexes (hyporeflexia); nystagmus; hyperactivity; and/or behavioral problems. ssadh deficiency is caused by mutations in the aldh5a1 gene and is inherited in an autosomal recessive manner. management is generally symptomatic and typically focuses on treating seizures and neurobehavioral issues. last updated: 9/25/2013

UniProtKB/Swiss-Prot : 71 Succinic semialdehyde dehydrogenase deficiency: A rare inborn error of 4-aminobutyric acid (GABA) metabolism, which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is clinically characterized by developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances.

OMIM : 54
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive neurologic disorder in which an enzyme defect in the GABA degradation pathway causes a consecutive elevation of gamma-hydroxybutyric acid (GHB) and GABA. The clinical features include developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances (summary by Reis et al., 2012). (271980)

Disease Ontology : 12 A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.

Wikipedia : 72 Succinic semialdehyde dehydrogenase deficiency (SSADHD), also known as 4-hydroxybutyric aciduria or... more...

GeneReviews: NBK1195

Related Diseases for Succinic Semialdehyde Dehydrogenase Deficiency

Diseases related to Succinic Semialdehyde Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
id Related Disease Score Top Affiliating Genes
1 hypotonia 10.2
2 epilepsy 10.2
3 surfactant metabolism dysfunction, pulmonary, 3 10.1 ABAT ALDH5A1
4 dystonia 10.0
5 intellectual disability 10.0
6 encephalopathy 10.0
7 obesity 10.0
8 canavan disease 10.0
9 wagr syndrome 10.0
10 autism spectrum disorder 10.0
11 juvenile absence epilepsy 10.0
12 neuroleptic malignant syndrome 10.0
13 status epilepticus 10.0
14 sleep disorder 10.0
15 d-2-hydroxyglutaric aciduria 9.8
16 gaba-transaminase deficiency 9.8
17 personality disorder 9.7 ALDH2 GAD1
18 dyskinetic cerebral palsy 9.1 ALDH3A2 GAD1
19 colitis 7.0 ABAT AKR7A2 ALDH1B1 ALDH3A2 ALDH4A1 ALDH5A1
20 neuroblastoma 4 6.5 ABAT AKR7A2 ALDH1B1 ALDH2 ALDH3A2 ALDH4A1

Graphical network of the top 20 diseases related to Succinic Semialdehyde Dehydrogenase Deficiency:



Diseases related to Succinic Semialdehyde Dehydrogenase Deficiency

Symptoms & Phenotypes for Succinic Semialdehyde Dehydrogenase Deficiency

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
delayed motor development
mental retardation
ataxia
hyporeflexia
more
Head And Neck- Eyes:
abnormal eye movements

Neurologic- Behavioral Psychiatric Manifestations:
hallucinations
hyperactivity
anxiety
aggressiveness
autism, mild
more
Laboratory- Abnormalities:
increased urinary excretion of 4-hydroxybutyric acid (ghb)
increased csf and plasma ghb
increased urinary excretion of gamma-aminobutyric acid (gaba)
increased csf and plasma gaba
decreased activity of succinic semialdehyde dehydrogenase (ssadh, aldh5a1), less than 5% of control values


Clinical features from OMIM:

271980

Human phenotypes related to Succinic Semialdehyde Dehydrogenase Deficiency:

56 32 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001251
2 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
3 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 status epilepticus 56 32 frequent (33%) Frequent (79-30%) HP:0002133
5 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
6 generalized tonic-clonic seizures 56 32 frequent (33%) Frequent (79-30%) HP:0002069
7 behavioral abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0000708
8 abnormality of metabolism/homeostasis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001939
9 generalized myoclonic seizures 56 32 frequent (33%) Frequent (79-30%) HP:0002123
10 hyporeflexia 32 HP:0001265
11 absence seizures 32 HP:0002121
12 hallucinations 32 HP:0000738
13 hyperactivity 32 HP:0000752
14 autism 32 HP:0000717
15 aggressive behavior 32 HP:0000718
16 motor delay 32 HP:0001270
17 psychosis 32 HP:0000709
18 self-injurious behavior 32 HP:0100716
19 anxiety 32 HP:0000739
20 hyperkinesis 32 HP:0002487
21 delayed speech and language development 32 HP:0000750
22 abnormality of eye movement 32 HP:0000496
23 eeg abnormality 32 HP:0002353

UMLS symptoms related to Succinic Semialdehyde Dehydrogenase Deficiency:


ataxia, seizures

Drugs & Therapeutics for Succinic Semialdehyde Dehydrogenase Deficiency

Drugs for Succinic Semialdehyde Dehydrogenase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 (3-aminopropyl)(n-butyl)phosphinic acid Phase 2
2 GABA Agents Phase 2
3 Neuroprotective Agents Phase 2
4 Neurotransmitter Agents Phase 2
5 Protective Agents Phase 2
6
Taurine Approved, Nutraceutical 107-35-7 1123

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency Recruiting NCT02019667 Phase 2 SGS-742;Placebo
2 PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency Completed NCT00246870
3 Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency Completed NCT00132366
4 Taurine Therapy for SSADH Deficiency Completed NCT01608178

Search NIH Clinical Center for Succinic Semialdehyde Dehydrogenase Deficiency

Genetic Tests for Succinic Semialdehyde Dehydrogenase Deficiency

Genetic tests related to Succinic Semialdehyde Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Succinate-Semialdehyde Dehydrogenase Deficiency 29
2 Succinic Semialdehyde Dehydrogenase Deficiency 24 ALDH5A1

Anatomical Context for Succinic Semialdehyde Dehydrogenase Deficiency

MalaCards organs/tissues related to Succinic Semialdehyde Dehydrogenase Deficiency:

39
Eye, Brain, Liver, Globus Pallidus

Publications for Succinic Semialdehyde Dehydrogenase Deficiency

Articles related to Succinic Semialdehyde Dehydrogenase Deficiency:

(show top 50) (show all 80)
id Title Authors Year
1
Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency. ( 28213850 )
2017
2
[Identification of ALDH5A1 gene mutations in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency]. ( 28186584 )
2017
3
Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for I^-hydroxybutyric acid (GHB) in biofluids. ( 28649510 )
2017
4
Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. ( 27268762 )
2016
5
Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism. ( 27311541 )
2016
6
Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency. ( 27338723 )
2016
7
Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism. ( 27686230 )
2016
8
Eye Findings on Vigabatrin and Taurine Treatment in Two Patients with Succinic Semialdehyde Dehydrogenase Deficiency. ( 27104484 )
2016
9
A case of succinic semialdehyde dehydrogenase deficiency with status epilepticus and rapid regression. ( 27117035 )
2016
10
Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase deficiency. ( 26964512 )
2016
11
Succinic Semialdehyde Dehydrogenase Deficiency Presenting as Autism Spectrum Disorder. ( 26806207 )
2016
12
A case of acute onset succinic semialdehyde dehydrogenase deficiency: neuroimaging findings and literature review. ( 26499347 )
2015
13
Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. ( 26268900 )
2015
14
Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses. ( 26220405 )
2015
15
Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency. ( 27896081 )
2014
16
Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype. ( 25122112 )
2014
17
A Novel Mutation of ALDH5A1 Gene Associated With Succinic Semialdehyde Dehydrogenase Deficiency. ( 25246302 )
2014
18
Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA. ( 24523482 )
2014
19
[Succinic semialdehyde dehydrogenase deficiency: an inheritable neurometabolic disease]. ( 23516105 )
2013
20
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. ( 23825041 )
2013
21
Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. ( 22739941 )
2013
22
Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency. ( 23430529 )
2013
23
[Analysis of ALDH5A1 gene mutation in a Chinese Han family with succinic semialdehyde dehydrogenase deficiency]. ( 23926001 )
2013
24
A novel ALDH5A1 mutation in a patient with succinic semialdehyde dehydrogenase deficiency. ( 22437753 )
2012
25
A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency. ( 21612881 )
2012
26
Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency. ( 23430864 )
2012
27
Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. ( 21664777 )
2011
28
Neuropathology in succinic semialdehyde dehydrogenase deficiency. ( 20304328 )
2010
29
Head bobbing due to succinic semialdehyde dehydrogenase deficiency. ( 20548048 )
2010
30
Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency. ( 20445195 )
2010
31
Sleep disorders in succinic semialdehyde dehydrogenase deficiency: a family report. ( 19896403 )
2010
32
[Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin]. ( 20018576 )
2010
33
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. ( 19172412 )
2009
34
Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. ( 19667317 )
2009
35
Circadian distribution of generalized tonic-clonic seizures associated with murine succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. ( 18514581 )
2008
36
Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. ( 18622364 )
2008
37
'Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-up'. ( 18811705 )
2008
38
Evidence for oxidative stress in tissues derived from succinate semialdehyde dehydrogenase-deficient mice. ( 17885820 )
2007
39
Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. ( 17438226 )
2007
40
Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice). ( 17303287 )
2007
41
Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function. ( 16647690 )
2006
42
Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation. ( 16542398 )
2006
43
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. ( 16545979 )
2006
44
Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria). ( 15287248 )
2004
45
Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency. ( 15037717 )
2004
46
Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency. ( 15016427 )
2004
47
The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family. ( 15059623 )
2004
48
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. ( 15582027 )
2004
49
Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency. ( 15093183 )
2004
50
Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria). ( 15341910 )
2004

Variations for Succinic Semialdehyde Dehydrogenase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Succinic Semialdehyde Dehydrogenase Deficiency:

71 (show all 12)
id Symbol AA change Variation ID SNP ID
1 ALDH5A1 p.Cys93Phe VAR_026199 rs765561257
2 ALDH5A1 p.Gly176Arg VAR_026200 rs72552281
3 ALDH5A1 p.Cys223Tyr VAR_026201 rs72552282
4 ALDH5A1 p.Thr233Met VAR_026202
5 ALDH5A1 p.Asn255Ser VAR_026203 rs145087265
6 ALDH5A1 p.Gly268Glu VAR_026204 rs375628463
7 ALDH5A1 p.Asn335Lys VAR_026205 rs72552283
8 ALDH5A1 p.Pro382Leu VAR_026206
9 ALDH5A1 p.Pro382Gln VAR_026207
10 ALDH5A1 p.Gly409Asp VAR_026208 rs118203984
11 ALDH5A1 p.Val487Glu VAR_026209
12 ALDH5A1 p.Gly533Arg VAR_026210 rs72552284

ClinVar genetic disease variations for Succinic Semialdehyde Dehydrogenase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ALDH5A1 ALDH5A1, IVS9, G-T, +1 single nucleotide variant Pathogenic
2 ALDH5A1 ALDH5A1, IVS5, G-A, +1 single nucleotide variant Pathogenic
3 ALDH5A1 NM_001080.3(ALDH5A1): c.612G> A (p.Trp204Ter) single nucleotide variant Pathogenic rs118203982 GRCh37 Chromosome 6, 24505099: 24505099
4 ALDH5A1 NM_170740.1(ALDH5A1): c.1273C> T (p.Arg425Ter) single nucleotide variant Pathogenic rs118203983 GRCh37 Chromosome 6, 24528285: 24528285
5 ALDH5A1 NM_001080.3(ALDH5A1): c.1226G> A (p.Gly409Asp) single nucleotide variant Pathogenic rs118203984 GRCh37 Chromosome 6, 24528277: 24528277
6 ALDH5A1 NG_008161.1: g.31299_33753del2455 deletion Pathogenic GRCh37 Chromosome 6, 24521495: 24523949
7 ALDH5A1 NM_170740.1(ALDH5A1): c.1382+1_1382+3delinsTT indel Pathogenic rs875989801 GRCh37 Chromosome 6, 24528395: 24528397

Expression for Succinic Semialdehyde Dehydrogenase Deficiency

Search GEO for disease gene expression data for Succinic Semialdehyde Dehydrogenase Deficiency.

Pathways for Succinic Semialdehyde Dehydrogenase Deficiency

Pathways related to Succinic Semialdehyde Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 20)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 ABAT AKR7A2 ALDH1B1 ALDH2 ALDH3A2 ALDH4A1
2
Show member pathways
12.73 ABAT ALDH2 ALDH5A1 GAD1
3
Show member pathways
12.35 ALDH1B1 ALDH2 ALDH3A2
4
Show member pathways
12.19 ALDH1B1 ALDH2 ALDH3A2
5
Show member pathways
11.97 ALDH1B1 ALDH2 ALDH3A2
6
Show member pathways
11.93 ABAT ALDH5A1 GAD1
7
Show member pathways
11.62 ALDH1B1 ALDH2 ALDH3A2
8
Show member pathways
11.43 ABAT ALDH1B1 ALDH2 ALDH3A2 ALDH6A1
9 11.4 ALDH1B1 ALDH2 ALDH3A2
10
Show member pathways
11.31 ALDH1B1 ALDH2 ALDH3A2 ALDH4A1
11
Show member pathways
11.23 ALDH1B1 ALDH2 ALDH3A2
12
Show member pathways
11.16 ABAT ALDH5A1 GAD1
13
Show member pathways
11.09 ALDH1B1 ALDH2 ALDH3A2
14 11.07 ABAT ALDH6A1
15
Show member pathways
11.05 ALDH2 ALDH5A1
16 11 ABAT ALDH4A1 ALDH5A1 GAD1
17
Show member pathways
10.86 ABAT ALDH5A1
18
Show member pathways
10.77 ABAT GAD1
19
Show member pathways
10.63 ABAT ALDH1B1 ALDH2 ALDH3A2 ALDH6A1 GAD1
20
Show member pathways
10.61 ABAT GAD1

GO Terms for Succinic Semialdehyde Dehydrogenase Deficiency

Cellular components related to Succinic Semialdehyde Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.56 ABAT ALDH1B1 ALDH2 ALDH3A2 ALDH4A1 ALDH5A1
2 mitochondrial matrix GO:0005759 9.1 ABAT ALDH1B1 ALDH2 ALDH4A1 ALDH5A1 ALDH6A1

Biological processes related to Succinic Semialdehyde Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.67 AKR7A2 ALDH1B1 ALDH2
2 ethanol oxidation GO:0006069 9.48 ALDH1B1 ALDH2
3 ethanol catabolic process GO:0006068 9.46 ALDH1B1 ALDH2
4 cellular aldehyde metabolic process GO:0006081 9.43 AKR7A2 ALDH3A2
5 metabolic process GO:0008152 9.43 ALDH1B1 ALDH2 ALDH3A2 ALDH4A1 ALDH5A1 ALDH6A1
6 neurotransmitter catabolic process GO:0042135 9.4 ABAT ALDH5A1
7 gamma-aminobutyric acid metabolic process GO:0009448 9.37 ABAT ALDH5A1
8 gamma-aminobutyric acid biosynthetic process GO:0009449 9.32 ABAT GAD1
9 oxidation-reduction process GO:0055114 9.17 AKR7A2 ALDH1B1 ALDH2 ALDH3A2 ALDH4A1 ALDH5A1
10 gamma-aminobutyric acid catabolic process GO:0009450 9.16 ABAT ALDH5A1
11 glutamate decarboxylation to succinate GO:0006540 8.96 GAD1

Molecular functions related to Succinic Semialdehyde Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 electron carrier activity GO:0009055 9.5 AKR7A2 ALDH2 ALDH4A1
2 oxidoreductase activity GO:0016491 9.5 AKR7A2 ALDH1B1 ALDH2 ALDH3A2 ALDH4A1 ALDH5A1
3 pyridoxal phosphate binding GO:0030170 9.37 ABAT GAD1
4 aldehyde dehydrogenase [NAD(P)+] activity GO:0004030 9.26 ALDH2 ALDH3A2
5 NAD binding GO:0051287 9.16 ALDH1B1 ALDH2
6 aldehyde dehydrogenase (NAD) activity GO:0004029 8.92 ALDH1B1 ALDH2 ALDH3A2 ALDH4A1

Sources for Succinic Semialdehyde Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
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55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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